CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)

2014-11-01  

Identity

HGNC
CHCHD10
LOCATION
22q11.23
LOCUSID
400916
ALIAS
C22orf16,FTDALS2,IMMD,MIX17A,N27C7-4,SMAJ
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 400916
MIM: 615903
HGNC: 15559
Ensembl: ENSG00000250479

Variants:

dbSNP: 400916
ClinVar: 400916
TCGA: ENSG00000250479
COSMIC: CHCHD10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000250479ENST00000401675B5MBW9
ENSG00000250479ENST00000484558Q8WYQ3
ENSG00000250479ENST00000517886E5RGN4
ENSG00000250479ENST00000520222E5RH03

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382113612024NDV inhibited IFN-β secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation.0
382113612024NDV inhibited IFN-β secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation.0
366252062023Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10.0
381321012023Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion.1
366252062023Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10.0
381321012023Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion.1
353492552022Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.2
356567942022CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.9
357090072022CHCHD10 Modulates Thermogenesis of Adipocytes by Regulating Lipolysis.6
357872942022Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10.10
353492552022Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.2
356567942022CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.9
357090072022CHCHD10 Modulates Thermogenesis of Adipocytes by Regulating Lipolysis.6
357872942022Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10.10
326518552021Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis.0

Citation

Dessen P

CHCHD10 (coiled-coil-helix-coiled-coil-helix domain containing 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61790/haematological-explorer/humanGenome